Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1999

Volume 13, Issue 5

Pages 343–415

  1. Meeting Report

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. 5th International HUGO Mutation Database Meeting, 27th October, 1998, Denver, U.S.A. (page 343)

      Ourania Horaitis and Richard G.H. Cotton

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<343::AID-HUMU1>3.0.CO;2-Y

  2. Special Article

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. You have free access to this content
      Guidelines and recommendations for content, structure, and deployment of mutation databases (pages 344–350)

      C.R. Scriver, P.M. Nowacki and H. Lehväslaiho

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<344::AID-HUMU2>3.0.CO;2-U

  3. Mutation Updates

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. Congenital hyperinsulinism: Molecular basis of a heterogeneous disease (pages 351–361)

      Thomas Meissner, Beatrice Beinbrech and Ertan Mayatepek

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R

    2. Cystathionine β-synthase mutations in homocystinuria (pages 362–375)

      Jan P. Kraus, Miroslav Janošík, Viktor Kožich, Roseann Mandell, Vivian Shih, M.P. Sperandeo, Gianfranco Sebastio, Raffaella de Franchis, Generoso Andria, Leo A.J. Kluijtmans, Henk Blom, Godfried H.J. Boers, Ross B. Gordon, Pierre Kamoun, Michael Y. Tsai, Warren D. Kruger, Hans G. Koch, Toshihiro Ohura and Mette Gaustadnes

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K

  4. Rapid Communication

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. Two novel mutations of the FMO3 gene in a proband with trimethylaminuria (pages 376–379)

      B.R. Akerman, S. Forrest, L. Chow, R. Youil, M. Knight and E.P. Treacy

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<376::AID-HUMU5>3.0.CO;2-A

  5. Research Articles

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. Molecular genetic study of Pompe disease in Chinese patients in Taiwan (pages 380–384)

      Tsang-Ming Ko, Wuh-Liang Hwu, Yu-Wan Lin, Li-Hui Tseng,, Hsiao-Lin Hwa, Tso-Ren Wang and Sou-Ming Chuang

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<380::AID-HUMU6>3.0.CO;2-A

    2. Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21 (pages 385–389)

      Gita Ohlsson, Jørn Müller and Marianne Schwartz

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<385::AID-HUMU7>3.0.CO;2-2

    3. Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology (pages 390–400)

      Giordana Feriotto, Marco Lucci, Nicoletta Bianchi, Carlo Mischiati and Roberto Gambari

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<390::AID-HUMU8>3.0.CO;2-1

    4. Six novel β-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis (pages 401–409)

      Cláudia M.D. Silva, Márcia H. Severini, Andréia Sopelsa, Janice C. Coelho, Arnaldo Zaha, Alessandra d'Azzo and Roberto Giugliani

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N

  6. Letter to the Editor

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. Low frequency of oncogenic mutations in the core promoter region of the RB1 gene (pages 410–411)

      Tsuyoshi Fujita, Naoko Ohtani-Fujita, Toshiyuki Sakai, Joyce M. Rapaport, Thaddeus P. Dryja, Mitsuo V. Kato, Kanji Ishizaki, Masao S. Sasaki, Yoshihiro Hotta, Koshi Maeda, Shigeru Kinoshita, Yoshitaka Ohnishi and Kensei Minoda

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<410::AID-HUMU10>3.0.CO;2-1

  7. Mutations in Brief

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. You have free access to this content
      Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda (page 412)

      Julie F. McManus, C. Glenn Begley, S. Sassa and Sujiva Ratnaike

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU11>3.0.CO;2-T

    2. You have free access to this content
      Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo (page 412)

      Giuseppina Marino, Salvatore Travali, Tony Reyes, Bruce R. Wallace, Rosalia Caldarella, Simone Travali, Giovanni Emmanuele, Franca Stivala, Carlo M. Barbagallo, Alfredo Cantafora, Stefano Bertolini, Alberto Notarbartolo and Maurizio Averna

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU12>3.0.CO;2-Q

    3. You have free access to this content
      Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population (pages 412–413)

      Emma J. Sherratt, Andrew W. Thomas, James W. Gagg, Aneela Majid and John C. Alcolado

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU13>3.0.CO;2-N

    4. You have free access to this content
      A single, large deletion accounts for all the β-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia (page 413)

      M.K. Thong, Z. Rudzki, J. Hall, J.A.M.A. Tan, L.L. Chan and S.F. Yap

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU14>3.0.CO;2-H

    5. You have free access to this content
      Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum (page 413)

      Lana Strmecki, Majda Benedik-Dolnicar, Katja Vouk and Radovan Komel

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.0.CO;2-E

  8. Mutation and Polymorphism Reports

    1. Top of page
    2. Meeting Report
    3. Special Article
    4. Mutation Updates
    5. Rapid Communication
    6. Research Articles
    7. Letter to the Editor
    8. Mutations in Brief
    9. Mutation and Polymorphism Reports
    1. A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele (page 414)

      Grace Gathungu, Hung Jeff Kim and Robert J. Morell

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU16>3.0.CO;2-8

    2. Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient (page 414)

      Tsang-Ming Ko, Zhi-Cheng Liang, Yu-Wan Lin and Wuh-Liang Hwu

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU17>3.0.CO;2-5

    3. Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a (page 414)

      M. Linnebank, B. Rapp, A. Homberger, C. Winter, T. Marquardt, U. Künzel and H.G. Koch

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU18>3.0.CO;2-2

    4. A novel alpha-1-antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa) (page 414)

      Susana Seixas, M. Jesus Trovoada, M. Teresa Santos and Jorge Rocha

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<414::AID-HUMU19>3.0.CO;2-#

    5. Alpha2-HS glycoprotein (fetuin) deficiency in a heterozygote of 4452A>T (page 415)

      Motoki Osawa, Lotte Henke, Kazuo Umetsu and Jürgen Henke

      Article first published online: 20 MAY 1999 | DOI: 10.1002/(SICI)1098-1004(1999)13:5<415::AID-HUMU20>3.0.CO;2-M

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